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  daylight
8/16/09 10:30 AM
Info about fragile x genetic testing

Hi all I'm posting this as it relates to autism . Just last week I got my new glasses as I couldn't see to read. Anyways my daughter is going to the doctor tomorrow ,so I thought to look at her past paperwork. To my surprise there was a recommendation for her to have fragile x genetic testing. Now I always knew that autism runs on her fathers side but after reading about this I can see that I may be a carrier of the "x" gene.
Some of the signs list were:
Autism or asperger's syndrome (my daughter has asperger's and autism on her fathers side)
tremors
ataxia
early ovarian failure (before the age of 40) I had my hyst for this at 33,my grandmother around 27
dementia,or early memory loss
delayed speech or walking skills (I didn't walk well until 3 yrs)
well the list goes on but usually they say that you can see the pattern within families.
Also auto immune problems can happen with this people
as well as Parkinsonsiam (sp?) it similar to Parkinson . My aunt has this.

Well I'm upset with my self for not knowing that this test was recommended back in 2005.
So hopefully this new doctor won't think me a nut for bringing it up.

here is the link. http://www.fragilex.org/html/what.htm

It's actually a good thing in a way that I didn't know anything about this prior to having my daughters as I probably would not have had children .
Lets hope that this doctor will run the test. It not a cheap one. The test is anywhere between 300 to 600 dollars. augh.=(

D.








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  sorekitty
8/26/09 5:53 PM
Fragile X

If I remember correctly isn't Fragile X much more common in boys? Although I do believe girls have it as well. My ds has Asperger Syndrome also. He has hypotonia and walked late too. When he was 15 mos we saw a ped neurologist and he did a lot of blood work to rule out muscle disorders and such. He did the Fragile X test and it was a simple blood test. I don't remember it being expensive. Sorry about that.

Did your dd have the test yet? Hopefully it will give you more answers. The dr should know it is good to rule out things so I think it is great that you bring it up to the dr.

Molly



  daylight
8/27/09 1:26 PM
sorekitty

it's worse for boys but girls get it to. My daughter hasen't been tested yet we are still waiting to get approval for the test. I'm not holding my breath though for them to approve it. She is going to see a neurologist as so as we get the referral so hopefully we'll be able to find out more.



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